TY  - JOUR
AU  - Ortega-Cubero, Sara
AU  - Lorenzo-Betancor, Oswaldo
AU  - Lorenzo, Elena
AU  - Agúndez, José A G
AU  - Jiménez-Jiménez, Félix J
AU  - Ross, Owen A
AU  - Wurster, Isabel
AU  - Mielke, Carina
AU  - Lin, Juei-Jueng
AU  - Coria, Francisco
AU  - Clarimon, Jordi
AU  - Ezquerra, Mario
AU  - Brighina, Laura
AU  - Annesi, Grazia
AU  - Alonso-Navarro, Hortensia
AU  - García-Martin, Elena
AU  - Gironell, Alex
AU  - Marti, Maria J
AU  - Yueh, Kuo-Chu
AU  - Wszolek, Zbigniew K
AU  - Sharma, Manu
AU  - Berg, Daniela
AU  - Krüger, Rejko
AU  - Pastor, Maria A
AU  - Pastor, Pau
TI  - TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.
JO  - Parkinsonism & related disorders
VL  - 21
IS  - 3
SN  - 1353-8020
CY  - Amsterdam [u.a.]
PB  - Elsevier Science
M1  - DZNE-2020-04140
SP  - 306-309
PY  - 2015
AB  - Essential tremor (ET) is the most frequent movement disorder in adults. Its pathophysiology is not clearly understood, however there is growing evidence showing common etiologic factors with other neurodegenerative disorders such as Alzheimer's and Parkinson's diseases (AD, PD). Recently, a rare p.R47H substitution (rs75932628) in the TREM2 protein (triggering receptor expressed on myeloid cells 2; OMIM: *605086) has been proposed as a risk factor for AD, PD and amyotrophic lateral sclerosis (ALS). The objective of the study was to determine whether TREM2 p.R47H allele is also a risk factor for developing ET.This was a cross-sectional multicenter international study. An initial case-control cohort from Spain (n = 456 ET, n = 2715 controls) was genotyped. In a replication phase, a case-control series (n = 897 ET, n = 1449 controls) from different populations (Italy, Germany, North-America and Taiwan) was studied. Owed to the rarity of the variant, published results on p.R47H allele frequency from 14777 healthy controls from European, North American or Chinese descent were additionally considered. The main outcome measure was p.R47H (rs75932628) allelic frequency.There was a significant association between TREM2 p.R47H variant and ET in the Spanish cohort (odds ratio [OR], 5.97; 95
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Aged, 80 and over
KW  - Arginine: genetics
KW  - Cross-Sectional Studies
KW  - DNA Mutational Analysis
KW  - Essential Tremor: etiology
KW  - Essential Tremor: genetics
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Genotype
KW  - Germany
KW  - Histidine: genetics
KW  - Humans
KW  - International Cooperation
KW  - Italy
KW  - Male
KW  - Membrane Glycoproteins: genetics
KW  - Middle Aged
KW  - North America
KW  - Receptors, Immunologic: genetics
KW  - Risk Factors
KW  - Spain
KW  - Taiwan
KW  - Young Adult
KW  - Membrane Glycoproteins (NLM Chemicals)
KW  - Receptors, Immunologic (NLM Chemicals)
KW  - TREM2 protein, human (NLM Chemicals)
KW  - Histidine (NLM Chemicals)
KW  - Arginine (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:25585992
C2  - pmc:PMC4408541
DO  - DOI:10.1016/j.parkreldis.2014.12.010
UR  - https://pub.dzne.de/record/137818
ER  -